Varaico: Literature-Extracted Genetic Variants

PTCH1

2,098 papers

RefSeq Summary

This gene encodes a member of the patched family of proteins and a component of the hedgehog signaling pathway. Hedgehog signaling is important in embryonic development and tumorigenesis. The encoded ...

Pfam Domains

TRA2_Naa 147–297UCSCTransformer protein 2 N-terminal domain

Sterol-sensingaa 462–616UCSCSterol-sensing domain of SREBP cleavage-activation

Gene Aliases

HGNC Name

patched 1

HGNC Previous Symbol

NBCCS

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_000264.5

p.W1312*

c.3936G>A

Surrounding Variants

2 papers

NM_000264.5

p.P1313S

c.3937C>T

3 papers

NM_000264.5

p.P1314S

c.3940C>T

1 paper

NM_000264.5

p.L1311fs

c.3931_3932fs

13 papers

NM_000264.5

p.P1314L

c.3941C>T

2 papers

NM_000264.5

p.P1314R

c.3941C>G

1 paper

NM_000264.5

p.P1314H

c.3941C>A

1 paper

NM_000264.5

p.G1310G

c.3930C>T

2 papers

NM_000264.5

p.G1310D

c.3929G>A

2 papers

NM_000264.5

p.P1315S

c.3943C>T

1 paper

NM_000264.5

p.G1310_L1311ins5

c.3928_3932ins15

79 papers

NM_000264.5

p.P1315L

c.3944C>T

4 papers

NM_000264.5

p.P1315R

c.3944C>G